FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 349:753-759 August 21, 2003 Number 8 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF PDA Full Text Perspective by Kaiser, U. B. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

Spontaneous ovarian hyperstimulation syndrome is a rare event, in contrast to iatrogenic ovarian hyperstimulation syndrome, which is induced with the use of gonadotropins in assisted reproductive medicine. The pathological features of the syndrome, whether spontaneous or iatrogenic, include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis.¹ The pathogenesis of the syndrome and its systemic manifestations are poorly understood.^2,3,4,5,6 We describe a familial case of recurrent spontaneous ovarian hyperstimulation syndrome. The affected women were heterozygous for a mutation in the transmembrane domain of the gene encoding the follicle-stimulating hormone receptor. In . . . [Full Text of this Article]

Case Report

Family History

Methods

Hormone Assays

DNA Sequencing

Construction of an Expression Vector Encoding the Mutated Follicle-Stimulating Hormone Receptor

Functional Studies of the Mutated Receptor

Results

Identification of the Mutation

Functional Studies of the Mutant Receptor

Discussion

Source Information

From the Service de Gynécologie Obstétrique (C.V., C.G., L.P., S.C., P.D.), INSERM EMI Unité 0018 (P.R., F.S.), Service d'Endocrinologie (P.R.), Laboratoire de Biochimie (F.S.), Laboratoire d'Anatomopathologie (A.C.), and Laboratoire d'Hormonologie (E.M.), Centre Hospitalier Universitaire d'Angers, Angers; INSERM EMI Unité 120, Hôpital Bicêtre, Le Kremlin Bicêtre (I.B., A.D., M.M.); and Laboratoire d'Hormonologie, Hôpital St. Vincent de Paul, Paris (N.L.) — all in France.

Address reprint requests to Dr. Rodien at the Service d'Endocrinologie, Centre Hospitalier Universitaire d'Angers, 4, rue Larrey, 49033 Angers CEDEX 01, France, or at parodien@chu-angers.fr.

This article has been cited by other articles:

• Allan, C. M., Lim, P., Robson, M., Spaliviero, J., Handelsman, D. J. (2009). Transgenic mutant D567G but not wild-type human FSH receptor overexpression provides FSH-independent and promiscuous glycoprotein hormone Sertoli cell signaling. Am. J. Physiol. Endocrinol. Metab. 296: E1022-E1028 [Abstract] [Full Text]  
• Grochal, F., Turner, C. D., Chern, A. L., Wilters, J., Jeanty, P. (2008). Sonographic Detection of the Ovarian Hyperreactio Luteinalis in Pregnancy. Journal of Diagnostic Medical Sonography 24: 369-373 [Abstract]  
• Royer, J., Lefevre-Minisini, A., Caltabiano, G., Lacombe, T., Malthiery, Y., Savagner, F., Pardo, L., Rodien, P. (2008). The Cloned Equine Thyrotropin Receptor Is Hypersensitive to Human Chorionic Gonadotropin; Identification of Three Residues in the Extracellular Domain Involved in Ligand Specificity. Endocrinology 149: 5088-5096 [Abstract] [Full Text]  
• Feng, X., Muller, T., Mizrachi, D., Fanelli, F., Segaloff, D. L. (2008). An Intracellular Loop (IL2) Residue Confers Different Basal Constitutive Activities to the Human Lutropin Receptor and Human Thyrotropin Receptor through Structural Communication between IL2 and Helix 6, via Helix 3. Endocrinology 149: 1705-1717 [Abstract] [Full Text]  
• Binder, H., Dittrich, R., Hager, I., Muller, A., Oeser, S., Beckmann, M. W, Hamori, M., Fasching, P. A, Strick, R. (2008). Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome. Reproduction 135: 107-116 [Abstract] [Full Text]  
• Zhang, M., Tao, Y.-X., Ryan, G. L., Feng, X., Fanelli, F., Segaloff, D. L. (2007). Intrinsic Differences in the Response of the Human Lutropin Receptor Versus the Human Follitropin Receptor to Activating Mutations. J. Biol. Chem. 282: 25527-25539 [Abstract] [Full Text]  
• Ryan, G. L., Feng, X., d'Alva, C. B., Zhang, M., Van Voorhis, B. J., Pinto, E. M., Kubias, A. E. F., Antonini, S. R., Latronico, A. C., Segaloff, D. L. (2007). Evaluating the Roles of Follicle-Stimulating Hormone Receptor Polymorphisms in Gonadal Hyperstimulation Associated with Severe Juvenile Primary Hypothyroidism. J. Clin. Endocrinol. Metab. 92: 2312-2317 [Abstract] [Full Text]  
• Bonomi, M., Busnelli, M., Persani, L., Vassart, G., Costagliola, S. (2006). Structural Differences in the Hinge Region of the Glycoprotein Hormone Receptors: Evidence from the Sulfated Tyrosine Residues. Mol. Endocrinol. 20: 3351-3363 [Abstract] [Full Text]  
• Van Durme, J., Horn, F., Costagliola, S., Vriend, G., Vassart, G. (2006). GRIS: Glycoprotein-Hormone Receptor Information System. Mol. Endocrinol. 20: 2247-2255 [Abstract] [Full Text]  
• Pau, E., Alonso-Muriel, I., Gomez, R., Novella, E., Ruiz, A., Garcia-Velasco, J. A., Simon, C., Pellicer, A. (2006). Plasma levels of soluble vascular endothelial growth factor receptor-1 may determine the onset of early and late ovarian hyperstimulation syndrome. Hum Reprod 21: 1453-1460 [Abstract] [Full Text]  
• De Leener, A., Montanelli, L., Van Durme, J., Chae, H., Smits, G., Vassart, G., Costagliola, S. (2006). Presence and Absence of Follicle-Stimulating Hormone Receptor Mutations Provide Some Insights into Spontaneous Ovarian Hyperstimulation Syndrome Physiopathology. J. Clin. Endocrinol. Metab. 91: 555-562 [Abstract] [Full Text]  
• Themmen, A. P N (2005). An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms. Reproduction 130: 263-274 [Abstract] [Full Text]  
• Costagliola, S., Urizar, E., Mendive, F., Vassart, G. (2005). Specificity and promiscuity of gonadotropin receptors. Reproduction 130: 275-281 [Abstract] [Full Text]  
• Rulli, S. B, Huhtaniemi, I. (2005). What have gonadotrophin overexpressing transgenic mice taught us about gonadal function?. Reproduction 130: 283-291 [Abstract] [Full Text]  
• Daelemans, C., Smits, G., de Maertelaer, V., Costagliola, S., Englert, Y., Vassart, G., Delbaere, A. (2004). Prediction of Severity of Symptoms in Iatrogenic Ovarian Hyperstimulation Syndrome by Follicle-Stimulating Hormone Receptor Ser680Asn Polymorphism. J. Clin. Endocrinol. Metab. 89: 6310-6315 [Abstract] [Full Text]  
• Montanelli, L., Van Durme, J. J. J., Smits, G., Bonomi, M., Rodien, P., Devor, E. J., Moffat-Wilson, K., Pardo, L., Vassart, G., Costagliola, S. (2004). Modulation of Ligand Selectivity Associated with Activation of the Transmembrane Region of the Human Follitropin Receptor. Mol. Endocrinol. 18: 2061-2073 [Abstract] [Full Text]  
• Gomez, R, Lima, I, Simon, C, Pellicer, A (2004). Administration of low-dose LH induces ovulation and prevents vascular hyperpermeability and vascular endothelial growth factor expression in superovulated rats. Reproduction 127: 483-489 [Abstract] [Full Text]  
• Rodien, P., Jordan, N., Lefevre, A., Royer, J., Vasseur, C., Savagner, F., Bourdelot, A., Rohmer, V. (2004). Abnormal stimulation of the thyrotrophin receptor during gestation. Hum Reprod Update 10: 95-105 [Abstract] [Full Text]  
• Delbaere, A., Smits, G., Olatunbosun, O., Pierson, R., Vassart, G., Costagliola, S. (2004). New insights into the pathophysiology of ovarian hyperstimulation syndrome. What makes the difference between spontaneous and iatrogenic syndrome?. Hum Reprod 19: 486-489 [Abstract] [Full Text]